Varaico: Literature-Extracted Genetic Variants

PRPF6

159 papers

RefSeq Summary

The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also...

Pfam Domains

PRP1_Naa 13–169UCSCPRP1 splicing factor, N-terminal

TPR_19aa 618–681UCSCTetratricopeptide repeat

TPR_16aa 680–743UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

pre-mRNA processing factor 6

HGNC Alias Symbols

bB152O15.1; ANT-1; U5-102K; Prp6; hPrp6; SNRNP102; RP60

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012469.4

p.V784M

c.2350G>A

Surrounding Variants

1 paper

NM_012469.4

p.N797delFs

c.2390delA

1 paper

NM_012469.4

p.Q805P

c.2414A>C

2 papers

NM_012469.4

p.N809fs

c.2425_2426fs

1 paper

NM_012469.4

p.E767fs

c.2299_2300fs

1 paper

NM_012469.4

p.E767delFs

c.2299delG

1 paper

NM_012469.4

p.T743I

c.2228C>T

1 paper

NM_012469.4

p.V831_D832del2

c.2491_2495del6

1 paper

NM_012469.4

p.G735_L736Splc

c.2206-100G>T

1 paper

NM_012469.4

p.Q734fs

c.2200_2201fs

1 paper

NM_012469.4

p.Q734delFs

c.2201delA

14 papers

NM_012469.4

p.R729W

c.2185C>T

1 paper

NM_012469.4

p.M724V

c.2170A>G